Loss of Function Variant in SMAD6 Is Associated With a Novel Phenotype of Internal Carotid Artery Dissection

Malak A Alghamdi; Wael Alqarawi; Essa Alharbi; Reham M Balahmar; Haya Alruqi; Nisserin Jadu; Majid Alhomidan; Mohammed Hussien Alghamdi; Naif A M Almontashiri

doi:10.1161/CIRCGEN.124.004686

Loss of Function Variant in SMAD6 Is Associated With a Novel Phenotype of Internal Carotid Artery Dissection

Circ Genom Precis Med. 2024 Aug;17(4):e004686. doi: 10.1161/CIRCGEN.124.004686. Epub 2024 Jul 29.

Authors

Malak A Alghamdi¹, Wael Alqarawi², Essa Alharbi³, Reham M Balahmar³, Haya Alruqi³, Nisserin Jadu⁴, Majid Alhomidan⁵, Mohammed Hussien Alghamdi², Naif A M Almontashiri^{3

6}

Affiliations

¹ Pediatric Department (M.A.A.).
² Department of Cardiac Sciences (W.A., M.H.A.).
³ Center for Genetics and Inherited Diseases (E.A., R.M.B., H.A., N.A.M.A.).
⁴ College of Medicine Research Centre (N.J.).
⁵ Radiology Department, College of Medicine, King Saud University, Riyadh, Saudi Arabia (M.A.).
⁶ Faculty of Applied Medical Sciences (N.A.M.A.), Taibah University, Almadinah Almunwarah, Saudi Arabia.

PMID: 39069920
DOI: 10.1161/CIRCGEN.124.004686

No abstract available

Keywords: arrhythmogenic right ventricular dysplasia; cardiovascular system; carotid artery, internal, dissection; homeostasis; transforming growth factors.

Publication types

Letter
Case Reports

MeSH terms

Adult
Carotid Artery, Internal, Dissection* / genetics
Female
Humans
Loss of Function Mutation
Male
Middle Aged
Phenotype*
Smad6 Protein* / genetics
Smad6 Protein* / metabolism

Substances

Smad6 Protein
SMAD6 protein, human